title: A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
abstract: The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the glucocerebrosidase gene and due to the presence of a tightly linked, highly homologous pseudogene. We now report the occurrence of a "Lepore-like" glucocerebrosidase fusion gene in which the 5' end is the functional gene and the 3' end is the pseudogene. This further complicates the molecular diagnosis of Gaucher disease but sheds light on the molecular anatomy of the glucocerebrosidase gene complex and on the pathogenesis of this important storage disease.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.forename: J
authors.initials: J
authors.lastname: Sorge
authors.forename: E
authors.initials: E
authors.lastname: Gross
authors.forename: M
authors.initials: M
authors.lastname: Kubitz
authors.forename: C
authors.initials: C
authors.lastname: West
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002478:Cells, Cultured; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D015723:Gene Library; D005796:Genes; D005959:Glucosidases / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D015183:Restriction Mapping; D012867:Skin / Q000201:enzymology
chemical_list: D004247:DNA; D005959:Glucosidases; D005962:Glucosylceramidase